Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: A phenocopy of the isotretinoin syndrome?

Abstract

The teratogenicity of vitamin A has been repeatedly reported in the literature and confirmed on the basis of several cases of adverse pregnancy outcome associated with maternal isotretinoin exposure. We report a case which shows a striking similarity with this syndrome, but the child was born to a mother who took a normal supplementation of vitamin A during pregnancy. The differential diagnosis is discussed.

Epidemiological aspects of prenatal exposure to high doses of vitamin a in Spain

“…This was the assumption made in the case published by Lungarotti et al (10), where the exposure to vitamin A was 2.000 IU.…”

Treacher- Collins Syndrome unusually in siblings

“…These crest cells play an important role in the development of the craniofacial appearance. So down regulation of Treacle expression results in craniofacial defects and growth retardation [4].…”

“…Extra ear tags and blind fistulas may develop anywhere between the tragus and the angle of the mouth. [4,5,8] Macrostomia, high palate ( sometimes cleft) and abnormal position and malocclusion of the teeth. Atypical hair growth in the form of a tongue-shaped process of the hairline extending towards the cheeks.…”

Orthodontic and Surgical Treatment of Patients with Congenital Unilateral and Bilateral Mandibulofacial Dysostosis

“…The pathogenesis is not yet fully clarified. The likelihood is that alteration of the intercellular matrix impedes the cellular spread during morphogenesis in the area of the first branchial arch and the first branchial pouch [9]. In the mouse animal model, hypervitaminosis A generates a similar teratism [9].…”

“…The likelihood is that alteration of the intercellular matrix impedes the cellular spread during morphogenesis in the area of the first branchial arch and the first branchial pouch [9]. In the mouse animal model, hypervitaminosis A generates a similar teratism [9]. Patients display antimongoloid angulation of the palpebral fissures, sharp bends within the lateral halves of the lower eyelids, irregularly marked lower lid coloboma (in contrast to Goldenhar syndrome), and missing tarsoconjunctival glands and cilia [18].…”